(used for variant description)
(last modified April 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003592.2 in the CUL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_065171.1, covering CUL1 transcript NM_003592.2.
(upstream sequence)
. . . . . g.5050
aggaggagggccgggcgggcaggggaggaggaggaggcgggcgccgtgtc c.-301
. . . . . . g.5110
gcacgcagctccaggcggggcagccccggtagctgagggacgcagctagaccttggcggg c.-241
. . . . . . g.5170
acggggctttcgccggggcccaggcccagggaccaggcggaggcgtcgcgggagcctttg c.-181
. . | 02 . . . g.36162
gggcaccacagagatgcgg | gtttgcctgcaatgagatttcattctctacatttaaaggac c.-121
. . . . . . g.36222
atcctttctgagctgctgtgaataaatttggaatggtactgtatattttcatctaatgga c.-61
. . . . . . g.36282
gaactagctgtactttgaataaggattgctgcactggacgactttagaacatccctcaca c.-1
. . . . . . g.36342
ATGTCGTCAACCCGGAGCCAGAACCCCCACGGCCTGAAGCAGATTGGCCTGGACCAGATC c.60
M S S T R S Q N P H G L K Q I G L D Q I p.20
. . . . . . g.36402
TGGGACGACCTCAGAGCCGGCATCCAGCAGGTGTACACACGGCAGAGCATGGCCAAGTCC c.120
W D D L R A G I Q Q V Y T R Q S M A K S p.40
. . | 03 . . . . g.60175
AGATATATGGAGCTCTACAC | TCATGTTTATAACTACTGTACTAGTGTTCACCAGTCAAAC c.180
R Y M E L Y T | H V Y N Y C T S V H Q S N p.60
. . . . . . g.60235
CAAGCACGAGGAGCTGGAGTTCCTCCTTCTAAGTCGAAAAAGGGGCAGACACCTGGAGGA c.240
Q A R G A G V P P S K S K K G Q T P G G p.80
. . . . . . g.60295
GCTCAGTTTGTTGGCCTGGAATTATATAAACGACTTAAGGAATTTTTGAAGAATTACTTG c.300
A Q F V G L E L Y K R L K E F L K N Y L p.100
. | 04 . . . . . g.63187
ACAAATCTTCTTAAG | GATGGAGAAGATTTGATGGATGAGAGTGTACTGAAATTCTACACT c.360
T N L L K | D G E D L M D E S V L K F Y T p.120
. . . . . . g.63247
CAACAATGGGAAGATTATCGATTTTCAAGCAAAGTGCTGAATGGAATTTGTGCCTACCTC c.420
Q Q W E D Y R F S S K V L N G I C A Y L p.140
. . . . . . g.63307
AATAGACATTGGGTTCGCCGTGAATGTGACGAAGGACGAAAAGGAATATATGAAATCTAT c.480
N R H W V R R E C D E G R K G I Y E I Y p.160
| 05 . . . . . | 06 . g.65713
TCG | CTTGCATTGGTGACTTGGAGAGACTGTCTGTTCAGGCCACTGAATAAACAG | GTAACA c.540
S | L A L V T W R D C L F R P L N K Q | V T p.180
. . . . . . g.65773
AATGCTGTTTTAAAGCTGATTGAAAAGGAAAGGAATGGTGAAACCATCAATACAAGATTG c.600
N A V L K L I E K E R N G E T I N T R L p.200
. . | 07 . . . . g.66527
ATTAGTGGAGTTGTACAGTCTTACG | TGGAATTGGGGCTGAATGAAGATGATGCATTTGCA c.660
I S G V V Q S Y V | E L G L N E D D A F A p.220
. . . . . . g.66587
AAGGGCCCTACGTTAACAGTGTATAAAGAATCCTTTGAATCTCAATTTTTGGCTGACACA c.720
K G P T L T V Y K E S F E S Q F L A D T p.240
. . . . . . g.66647
GAGAGATTTTATACCAGAGAGAGTACTGAATTCTTGCAGCAGAACCCAGTTACTGAATAT c.780
E R F Y T R E S T E F L Q Q N P V T E Y p.260
| 08 . . . . . g.72771
ATGAAAAAG | GCAGAGGCTCGTCTGCTTGAGGAACAACGAAGAGTTCAGGTTTACCTTCAT c.840
M K K | A E A R L L E E Q R R V Q V Y L H p.280
. . . . . . g.72831
GAAAGCACACAAGATGAATTAGCAAGGAAATGTGAACAAGTCCTCATTGAAAAACACTTG c.900
E S T Q D E L A R K C E Q V L I E K H L p.300
. . . . . | 09 . g.73786
GAAATTTTCCACACAGAATTTCAGAATTTATTGGATGCTGACAAAAATGAAG | ATTTGGGA c.960
E I F H T E F Q N L L D A D K N E D | L G p.320
. . . . . . g.73846
CGCATGTATAATCTTGTATCTAGAATCCAGGATGGCCTAGGAGAATTGAAAAAACTGTTG c.1020
R M Y N L V S R I Q D G L G E L K K L L p.340
. . . . . . g.73906
GAGACACACATTCATAATCAGGGTCTTGCAGCCATTGAAAAGTGTGGAGAAGCTGCTTTA c.1080
E T H I H N Q G L A A I E K C G E A A L p.360
| 10 . . . . . . g.89999
AAT | GACCCCAAAATGTATGTACAGACAGTGCTTGATGTTCATAAAAAATACAATGCCCTG c.1140
N | D P K M Y V Q T V L D V H K K Y N A L p.380
. . . . . | 11 . g.90139
GTAATGTCTGCATTCAACAATGACGCTGGCTTTGTGGCTGCTCTTGATAAG | GCTTGTGGT c.1200
V M S A F N N D A G F V A A L D K | A C G p.400
. . . . . . g.90199
CGCTTCATAAACAACAACGCGGTTACCAAGATGGCCCAATCATCCAGTAAATCCCCTGAG c.1260
R F I N N N A V T K M A Q S S S K S P E p.420
. . . | 12 . . g.92732
TTGCTGGCTCGATACTGTGACTCCTTGTTGAAGAAAAG | TTCCAAGAACCCAGAGGAGGCA c.1320
L L A R Y C D S L L K K S | S K N P E E A p.440
. . | 13. . . . g.93181
GAACTAGAAGACACACTCAATCAAGTG | ATGGTTGTCTTCAAGTACATAGAAGACAAAGAC c.1380
E L E D T L N Q V | M V V F K Y I E D K D p.460
. . . . . . g.93241
GTATTTCAGAAGTTCTATGCGAAGATGCTCGCCAAGAGGCTCGTCCACCAGAACAGTGCA c.1440
V F Q K F Y A K M L A K R L V H Q N S A p.480
. . . | 14 . . g.94737
AGTGACGATGCCGAAGCCAGCATGATCTCCAAGTTAAAG | CAAGCTTGCGGGTTCGAGTAC c.1500
S D D A E A S M I S K L K | Q A C G F E Y p.500
. . . . . . g.94797
ACCTCTAAACTTCAGCGCATGTTTCAAGACATTGGCGTGAGCAAAGATCTGAACGAGCAA c.1560
T S K L Q R M F Q D I G V S K D L N E Q p.520
. . . | 15. . . g.95932
TTCAAAAAGCACTTGACAAACTCAGAACCCCTAGACT | TGGATTTCAGCATTCAAGTGCTG c.1620
F K K H L T N S E P L D L | D F S I Q V L p.540
. . . . . | 16 . g.96475
AGCTCCGGGTCCTGGCCCTTCCAGCAGTCTTGTACATTTGCCTTGCCGTCAGAG | TTGGAA c.1680
S S G S W P F Q Q S C T F A L P S E | L E p.560
. . . . . . g.96535
CGTAGTTATCAGCGATTCACAGCTTTCTACGCCAGCCGCCACAGTGGCCGAAAATTGACG c.1740
R S Y Q R F T A F Y A S R H S G R K L T p.580
. . . . . . g.96595
TGGTTATATCAGTTGTCTAAAGGAGAATTGGTAACTAACTGCTTCAAAAACAGATATACT c.1800
W L Y Q L S K G E L V T N C F K N R Y T p.600
| 17 . . . . . . g.98939
TTGCAG | GCGTCGACATTCCAGATGGCTATCCTGCTTCAGTACAACACGGAAGATGCCTAC c.1860
L Q | A S T F Q M A I L L Q Y N T E D A Y p.620
. . . | 18 . . g.103992
ACTGTGCAGCAGCTGACCGACAGCACTCAAATTAAAATG | GACATTTTGGCGCAAGTTTTA c.1920
T V Q Q L T D S T Q I K M | D I L A Q V L p.640
. . | 19. . . . g.104129
CAGATTTTATTAAAGTCGAAGCTATTG | GTCTTGGAAGATGAAAATGCAAATGTTGATGAG c.1980
Q I L L K S K L L | V L E D E N A N V D E p.660
. . . . . | 20 . g.104741
GTGGAATTGAAGCCAGATACCTTAATAAAATTATATCTTGGTTATAAAAA | TAAGAAATTA c.2040
V E L K P D T L I K L Y L G Y K N | K K L p.680
. . . . . . g.104801
AGGGTTAACATCAATGTGCCAATGAAAACCGAACAGAAGCAGGAACAAGAAACCACACAC c.2100
R V N I N V P M K T E Q K Q E Q E T T H p.700
. . . | 21 . . . g.105458
AAAAACATCGAGGAAGACCGCAAACTACTGATTCAG | GCGGCCATCGTGAGAATCATGAAG c.2160
K N I E E D R K L L I Q | A A I V R I M K p.720
. . . . . . g.105518
ATGAGGAAGGTTCTGAAACACCAGCAGTTACTTGGCGAGGTCCTCACTCAGCTGTCCTCC c.2220
M R K V L K H Q Q L L G E V L T Q L S S p.740
. . . | 22 . . . g.106691
AGGTTCAAACCTCGAGTCCCTGTGATCAAG | AAATGCATTGACATTCTAATTGAGAAAGAA c.2280
R F K P R V P V I K | K C I D I L I E K E p.760
. . . . . g.106742
TATTTGGAGCGAGTGGATGGTGAAAAGGACACCTACAGTTACTTGGCTTAA c.2331
Y L E R V D G E K D T Y S Y L A X p.776
. . . . . . g.106802
cccttctggaagggtctgactgtgtgacccgcagcaaatagttcatgttggaaagaatga c.*60
. . . . . . g.106862
aaacaactcaagttcatagcagccagcctgccgccattggacctcccttttaaaaactga c.*120
. . . . . . g.106922
gaccaagactcccatcagctggtctcggatttacatcggaactgctcaggattgatacat c.*180
. . . . . . g.106982
ttcaagtctgtaaatacggacaccaacgccatttaccctaatttaagaacagcggggact c.*240
. . . . . . g.107042
gaccctccgtgccgagggctgcatgctaccgcactaagtcaatacatgggctccccgatt c.*300
. . . . . . g.107102
cgcagctgtcgtcttggcagcacttgtcacgttggcagcactttgagagcaagtctgagt c.*360
. . . . . . g.107162
ggacccacatgtaacctgctatgaaaaccatttgtatagtgtgtttcattttttaatgtg c.*420
. . . . . . g.107222
tgaaaataaagaaaattaaaggatttctgtacaagtcgcattgggttttgttttaagttt c.*480
. . . . g.107270
tactaatttctatatgtaaataaaagatataatgattgtgcaaattta c.*528
(downstream sequence)
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